Canonical Allele Identifier: CA2422446044

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.31478129G= , CM000685.2:g.31478129G=	GRCh38
NC_000023.10:g.31496246G= , CM000685.1:g.31496246G=	GRCh37
NC_000023.9:g.31406167G=	NCBI36
NG_012232.1:g.1866481C= , LRG_199:g.1866481C=

Transcript Alleles

HGVS	Amino-acid Change
NM_004006.3:c.8914C= MANE Select	NP_003997.2:p.Gln2972=
ENST00000357033.9:c.8914C= MANE Select	ENSP00000354923.3:p.Gln2972=
NM_000109.3:c.8890C=	NP_000100.2:p.Gln2964=
NM_000109.4:c.8890C=	NP_000100.3:p.Gln2964=
NM_004006.2:c.8914C= , LRG_199t1:c.8914C=	NP_003997.1:p.Gln2972=
NM_004009.3:c.8902C=	NP_004000.1:p.Gln2968=
NM_004010.3:c.8545C=	NP_004001.1:p.Gln2849=
NM_004011.3:c.4891C=	NP_004002.2:p.Gln1631=
NM_004011.4:c.4891C=	NP_004002.3:p.Gln1631=
NM_004012.3:c.4882C=	NP_004003.1:p.Gln1628=
NM_004012.4:c.4882C=	NP_004003.2:p.Gln1628=
NM_004013.2:c.1534C=	NP_004004.1:p.Gln512=
NM_004013.3:c.1534C=	NP_004004.2:p.Gln512=
NM_004014.2:c.727C=	NP_004005.1:p.Gln243=
NM_004014.3:c.727C=	NP_004005.2:p.Gln243=
NM_004020.3:c.1534C=	NP_004011.2:p.Gln512=
NM_004020.4:c.1534C=	NP_004011.3:p.Gln512=
NM_004021.2:c.1534C=	NP_004012.1:p.Gln512=
NM_004021.3:c.1534C=	NP_004012.2:p.Gln512=
NM_004022.2:c.1534C=	NP_004013.1:p.Gln512=
NM_004022.3:c.1534C=	NP_004013.2:p.Gln512=
NM_004023.2:c.1534C=	NP_004014.1:p.Gln512=
NM_004023.3:c.1534C=	NP_004014.2:p.Gln512=
ENST00000343523.6:c.727C=	ENSP00000340057.3:p.Gln243=
ENST00000343523.7:c.769C=	ENSP00000340057.4:p.Gln257=
ENST00000357033.8:c.8914C=	ENSP00000354923.3:p.Gln2972=
ENST00000358062.6:c.2002C=	ENSP00000350765.2:p.Gln668=
ENST00000358062.7:c.3760C=	ENSP00000350765.3:p.Gln1254=
ENST00000359836.5:c.1534C=	ENSP00000352894.1:p.Gln512=
ENST00000378677.6:c.8902C=	ENSP00000367948.2:p.Gln2968=
ENST00000378707.7:c.1534C=	ENSP00000367979.3:p.Gln512=
ENST00000474231.5:c.1534C=	ENSP00000417123.1:p.Gln512=
ENST00000541735.5:c.1534C=	ENSP00000444119.1:p.Gln512=
ENST00000619831.4:c.8899C=	ENSP00000479270.1:p.Gln2967=
ENST00000619831.5:c.4882C=	ENSP00000479270.2:p.Gln1628=
ENST00000620040.4:c.8911C=	ENSP00000478150.1:p.Gln2971=
ENST00000620040.5:c.1534C=	ENSP00000478150.2:p.Gln512=
ENST00000680961.1:c.1534C=	ENSP00000506386.1:p.Gln512=
ENST00000681646.1:n.2575C=
ENST00000682238.1:c.1534C=	ENSP00000508124.1:p.Gln512=
ENST00000683450.1:n.2379C=
ENST00000683957.1:n.2406C=
ENST00000684130.1:c.1534C=	ENSP00000508037.1:p.Gln512=
XM_006724468.2:c.8914C=	XP_006724531.1:p.Gln2972=
XM_006724469.2:c.8890C=	XP_006724532.1:p.Gln2964=
XM_006724469.3:c.8890C=	XP_006724532.1:p.Gln2964=
XM_006724470.2:c.8914C=	XP_006724533.1:p.Gln2972=
XM_006724470.3:c.8914C=	XP_006724533.1:p.Gln2972=
XM_006724471.2:c.8914C=	XP_006724534.1:p.Gln2972=
XM_006724472.2:c.8785C=	XP_006724535.1:p.Gln2929=
XM_006724473.2:c.8776C=	XP_006724536.1:p.Gln2926=
XM_006724474.2:c.8914C=	XP_006724537.1:p.Gln2972=
XM_006724474.3:c.8914C=	XP_006724537.1:p.Gln2972=
XM_006724475.2:c.8914C=	XP_006724538.1:p.Gln2972=
XM_011545467.1:c.8791C=	XP_011543769.1:p.Gln2931=
XM_011545468.1:c.8914C=	XP_011543770.1:p.Gln2972=
XM_011545468.2:c.8914C=	XP_011543770.1:p.Gln2972=
XM_017029328.1:c.8914C=	XP_016884817.1:p.Gln2972=
XM_017029331.1:c.3088C=	XP_016884820.1:p.Gln1030=